Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

RATIONALE: Allan-Herndon-Dudley syndrome (AHDS) results from a pathogenic variant in the hemizygous subunit of the SLC16A2 gene, which encodes monocarboxylate transporter 8 and follows an X-linked recessive pattern. AHDS manifests as neuropsychomotor developmental delay, intellectual disability, movement disorders, and thyroid hormone abnormalities. It is frequently misdiagnosed as cerebral palsy or hypothyroidism. PATIENT CONCERNS: A 9-month-old male infant exhibited poor head control, hypodynamia, motor retardation, hypertonic limbs, and thyroid abnormalities. Despite levothyroxine supplementation and rehabilitation therapy, no improvements were observed. Whole-exome sequencing identified a novel nonsense mutation in SLC16A2 (c.124G > T, p.E42X), which unequivocally established the diagnosis. DIAGNOSES: AHDS was confirmed. INTERVENTIONS: Levothyroxine treatment commenced early in infancy, followed by 3 months of rehabilitation therapy, starting at 5 months of age. The combined administration of levothyroxine and methimazole was initiated at 1 year and 10 months of age, respectively. OUTCOMES: While improvements were noted in thyroid hormone levels, neurological developmental delays persisted. LESSONS: AHDS should be considered in patients presenting with atypical neurological features and thyroid hormone abnormalities such as elevated triiodothyronine and decreased thyroxine levels. The early utilization of exome sequencing aids in prompt diagnosis. The identified SLC16A2 nonsense mutation correlates with severe neurological phenotypes and adds to the spectrum of genetic variations associated with AHDS.

Nucleic Acid and Nanomaterial Synergistic Amplification Enables Dual Targets of Ultrasensitive Fluorescence Quantification to Improve the Efficacy of Clinical Tuberculosis Diagnosis.

Interferon-γ (IFN-γ) release assays (IGRAs) are constrained by the limited diagnostic performance of a single indicator and the excessive Mycobacterium tuberculosis (Mtb) antigen stimulation time. This study presents a simultaneous, homogeneous, rapid, and ultrasensitive fluorescence quantification strategy for IFN-γ and IFN-γ-induced protein 10 (IP-10). This method relies on the high-affinity binding of aptamers to IFN-γ and IP-10, the enzyme-free catalytic hairpin assembly reaction, and the heightened sensitivity of CdTe quantum dots to Ag+ and hairpin structure C-Ag+-C and carbon dots to Hg2+ and hairpin structure T-Hg2+-T. Under optimized conditions, the selectivity of IFN-γ and IP-10 was excellent, with a linear range spanning from 1 to 100 ag/mL and low limits of detection of 0.3 and 0.5 ag/mL, respectively. Clinical practicality was confirmed through testing of 57 clinical samples. The dual-indicator combination detection showed 92.8% specificity and 93.1% sensitivity, with an area under the curve of 0.899, representing an improvement over the single-indicator approach. The Mtb antigen stimulation time was reduced to 8 h for 6/7 clinical samples. These findings underscore the potential of our approach to enhance the efficiency and performance of a tuberculosis (TB) clinical diagnosis.

[Human Accumulation and Toxic Effects of Microplastics：A Critical Review].

The effect of microplastics on the ecological environment and human health has become a topical issue， and research on the risks and harmful effects of MPs on human health in particular has attracted widespread attention. Due to the characteristics of small size， low degradability， and easy migration， MPs continuously migrate from the environment to the human body， and their main exposure pathways are oral ingestion， inhalation， and dermal contact， with the main exposure media being food， drinking water， dust， personal care products， etc. MPs have been detected in organs， fluids， and excreta of digestive， respiratory， cardiovascular， reproductive systems， etc. The abundance range of MPs in the human body is 0-1 206.94 particles per gram. After entering the human body， MPs can cause cytotoxicity， mitochondrial toxicity， DNA damage， cell membrane damage， and other effects on human cells and organs， leading to serious consequences such as local inflammation， ecological imbalance， metabolic disorders， etc.， in various systems. Owing to their small specific surface area， they can also adsorb pollutants such as heavy metals， organic pollutants， antibiotics， pathogens， and harmful microorganisms， causing combined toxicity and immunotoxicity. In the end， we highlighted general deficiencies in existing studies and provided directions for future research on the influence of MPs on human health.

Exploration of markers in oxidized rancidity walnut kernels based on lipidomics and volatolomics.

Walnut kernels are prone to oxidation and rancidity due to their rich lipid composition, but the existing evaluation indicators are not sensitive enough to promote their industrial development. This study aims to investigate the potential markers in oxidative rancidity walnut kernels using lipidomics and volatolomics. The results showed that the antioxidant capacity of walnut kernels significantly decreased after oxidation, with the decreasing of total phenolic content from 36276.34 mg GAE/kg to 31281.53 mg GAE/kg, the DPPH and ABTS free radical scavenging activity from 89.25% to 73.54%, and 61.69% to 43.73%, respectively. The activities of lipoxygenase (LOX) and lipase (LPS) increased by 6.08-fold and 0.33-fold, respectively. By combining volatolomics and chemometrics methods, it was found that significant differences existed in the content of hexanal, caproic acid, 1-pentanol, (E)-2-octenal, and 2-heptanenal before and after walnut kernel oxidation (VIP > 1). Based on the results of lipidomics, it can be concluded that the above five compounds can serve as characteristic markers for walnut kernel oxidative rancidity, mainly produced through glycerol phospholipid (GPL), glyceride, linoleic acid (LA), and α-linolenic acid (ALA) metabolism pathways. Possible mechanisms of lipid degradation in oxidized walnut kernels were also proposed, providing technical support for the storage, preservation, and high-value utilization of walnut kernels.

Fructose@histone synergistically improve the performance of DNA-templated Cu NPs: rapid analysis of LAM in tuberculosis urine samples using a handheld fluorometer and a smartphone RGB camera.

This study presented a nanoparticle-enhanced aptamer-recognizing homogeneous detection system combined with a portable instrument (NASPI) to quantify lipoarabinomannan (LAM). This system leveraged the high binding affinity of aptamers, the high sensitivity of nanoparticle cascade amplification, and the stabilization effect of dual stabilizers (fructose and histone), and used probe-Cu2+ to achieve LAM detection at concentrations ranging from 10 ag mL-1 to 100 fg mL-1, with a limit of detection of 3 ag mL-1 using a fluorometer. It can also be detected using an independently developed handheld fluorometer or the red-green-blue (RGB) camera of a smartphone, with a minimum detection concentration of 10 ag mL-1. We validated the clinical utility of the biosensor by testing the LAM in the urine of patients. Forty urine samples were tested, with positive LAM results in the urine of 18/20 tuberculosis (TB) cases and negative results in the urine of 6/10 latent tuberculosis infection cases and 10/10 non-TB cases. The assay results revealed a 100% specificity and a 90% sensitivity, with an area under the curve of 0.9. We believe that the NASPI biosensor can be a promising clinical tool with great potential to convert LAM into clinical indicators for TB patients.

Additions to hyphomycetes from Yungui Plateau, China with three new species (Ascomycota, Sordariomycetes).

Background: Yungui Plateau is rich in fungal diversity. Hyphomycetes, growing on submerged wood, can promote the degradation of organisms and the reuse of rotten wood energy. During an investigation of hyphomycetes in this region, 19 species of dematiaceous hyphomycetes were collected in Yungui Plateau. New information: Both morphological identification and multi-gene phylogenetic analyses of ITS, tef1 and LSU sequences supported Coryneumsevenseptatis as a new species. Phaeoisariaguizhouensis and Pleurotheciumyunanensis were introduced, based on morphology. Morphological descriptions and illustrations of the new species were detailed. Known species are listed with notes.